scholarly journals A Rare Case of 46, XX (SRY+) With Normal Male Stature and Unilateral Absence of the Vas Deferens

Author(s):  
Ganbayar Batmunkh ◽  
Purevtogtokh Myagmartseren ◽  
Tuul Bayarsaikhan ◽  
Tserendagva Dalkh ◽  
Munkhtuya Tumurkhuu

Objective: This study aimed to investigate the cause of primary infertility in a rare case with unilateral absence of vas deferens. Case report: A 35-year-old man was presented to the Infertility Clinic at the National Center of Maternal and Child Health (NCMCH) with an eight-year history of primary infertility. Clinical examination showed a normal intelligence with a coarse facial appearance and small testicles. Hormonal tests detected elevated levels of prolactin (PRL), follicle stimulating hormone (FSH), and luteinizing hormone (LH), and low levels of testosterone. Chromosomal analysis with fluorescence in situ hybridization (FISH) revealed a 46XX with SRY (sex-determining region Y) positive karyotype with translocation of the SRY gene (46XX der(X)t(X:Y)(p11.1:p11.3)(SRY+)). Magnetic resonance imaging (MRI) revealed bilateral seminal vesicles atrophy and agenesis of the vas deferens on the right side, which is rarely found in 46, XX male syndrome. Conclusion: Although 46XX testicular disorder of sexual development (DSD) cases are rare, multiple aspects of the clinical examinations are important to make an accurate diagnosis and to provide proper genetic counseling and guidance to patients in their long-term management.  

Author(s):  
Soraya Mehrabi ◽  
Elahe Shahriari ◽  
Motahareh Afrakhteh ◽  
Mitra Ranjbar ◽  
Marjan Zeinlai ◽  
...  

Brucellosis is a multi-system infectious disease that exhibits with various manifestations and complications. Neurobrucellosis is a rare but serious presentation of brucellosis that can be discovered in every stages of the disease. Laboratory tests and physical examination and patient history are generally the basis for diagnosing the disease. It has both insidious and prolonged clinical course of the disease and long-term therapies. Also the most common pattern of exhibition is subacute or chronic. We reported a case of young female who had history of painless weakness in the right lower limb (proximal and distal) that started gradually and had progressed over the time, and after a month she felt weakness in the left lower limb with the same pattern. Lumbosacral Magnetic resonance imaging (MRI) with and without contrast was shown evidence of enhancement thickening of caudal equina ventral roots. Brucella antigen titer was positive, the result was 1/160. And other clinical tests were normal. Patient treated with Intravenous injection (IV) Rifampicin and Intravenous Cotrimoxazole. patient was discharged with good health and continuinng all two medications for 5 months. The descision was taken to report this case as a result of entire respond in patient’s illness after a enduring disease. Neurobrucellosis is a treatable disease in which it would be better to consider a high indication of suspicion. Due to if ignored, it may cause significant morbidity and mortality.


2021 ◽  
Vol 49 (5) ◽  
pp. 030006052110037
Author(s):  
Liu Liang ◽  
Wang Jiajia ◽  
Li Shoubin ◽  
Qi Yufeng ◽  
Wang Gang ◽  
...  

We report the disease characteristics, diagnosis, and treatment of granulomatous orchitis. A 38-year-old man presented with a history of intermittent swelling, pain, and discomfort in the right testicle of 3 days’ duration. Unenhanced magnetic resonance imaging (MRI) of the testis and scrotum revealed an oval mass in the right testis measuring approximately 17 mm in diameter, with clear borders and a target ring-like appearance from periphery to center. T1-weighted imaging (T1WI) showed uniform low-intensity signals, and T2WI showed mixed high- and low-intensity signals. Diffusion-weighted imaging (DWI) signals were iso-intense, and the outer ring on enhanced scans showed progressive enhancement. We performed radical resection of the right testis under combined spinal–epidural anesthesia. The pathological diagnosis was granulomatous right orchitis. Two months postoperatively, ultrasonography showed no testis and epididymal echo signals in the right scrotum, and no obvious abnormalities; color Doppler blood flow imaging (CDFI) findings were normal. Granulomatous orchitis is rare in clinical practice, and the cause is unknown. The disease involves non-specific inflammation; however, it is currently believed that antibiotics and steroids are ineffective for conservative treatment, and orchiectomy should be actively performed.


CNS Spectrums ◽  
2010 ◽  
Vol 15 (S4) ◽  
pp. 3-6 ◽  
Author(s):  
Andres M. Kanner ◽  
Andrew J. Cole

A 27-year-old woman presented to the emergency room after having witnessed generalized tonic clonic seizure while asleep. Birth and development were normal. She had suffered a single febrile seizure at 13 months of age, but had no other seizure risk factors. She was otherwise well except for a history of depression for which she was taking sertraline. Depressive symptoms had been well controlled over the past 3 months, but she had been under increased stress working to finish a doctoral thesis. Neurological examination was normal. Magnetic resonance imaging (MRI) showed modest asymmetry of the hippocampi, slightly smaller on the right, but no abnormal signal and well-preserved laminar anatomy. An electroencephalogram was negative. She was discharged from the emergency room with no treatment. Three weeks later, the patient's boyfriend witnessed an episode of behavioral arrest with lip smacking and swallowing automatisms lasting 45 seconds, after which the patient was confused for 20–30 minutes. The next morning she and her boyfriend kept a previously scheduled appointment with a neurologist.


2020 ◽  
Vol 4 (Supplement_1) ◽  
Author(s):  
Petra Krutilova ◽  
Harjyot Sandhu ◽  
Michael Salim ◽  
Janice L Gilden ◽  
Paula Butler

Abstract Introduction: Parathyroid carcinoma (PC) is a rare endocrine malignancy. It accounts for <1% cases of primary hyperparathyroidism (PHPT). We present a rare case of concurrent PC and atypical parathyroid adenoma (PA). Case presentation: A 72-year-old woman presented with 1-week history of generalized weakness, confusion, and auditory hallucinations. Her medical history was significant for PHPT known for 5 years, CAD and CHF. The patient appeared mildly volume depleted and was tachycardic (105/min). The rest of her physical exam was unremarkable. Calcium (Ca) was 15.1 mg/dL (8.4–10.2 mg/dL) and intact PTH 451.9 pg/mL (12–88 pg/mL). Her condition improved with aggressive fluid replacement, pamidronate, and cinacalcet. A sestamibi scan revealed increased uptake of bilateral parathyroid tissue. Fine needle aspiration (FNA) revealed PA. Surgical treatment was postponed for control of cardiac comorbidities. One month later, she presented again with symptomatic hypercalcemia. Her Ca was 16.1 md/dL and PTH 761.5 pg/mL. Initial medical management was followed by subtotal parathyroidectomy – three masses were removed (one on the right and two on the left). Final pathology revealed PC within the left parathyroid, the others were consistent with hypercellular parathyroid tissue. One month later, the patient underwent left hemithyroidectomy, right parathyroidectomy, and central neck dissection. PTH level dropped to 2.4 pg/mL and Ca level was 7.6 mg/dL after surgery. She was discharged home on Ca and vitamin D supplements. Pathology was sent to a referral cancer center and revealed PC vs. atypical PA within the right parathyroid. Discussion: PC is a rare endocrine malignancy. Further, there are not many cases of synchronous PC and PA or multifocal PC. Diagnosing PC preoperatively is challenging since it shares overlapping characteristics with PA. Patients with malignancy commonly present with larger tumor size, higher level of Ca (>14.6 mg/dL), and PTH (5-fold higher than the upper limit of normal). Our patient had a history of multiple admissions due to symptomatic HC. She had no palpable neck masses on exam. Her initial FNA was consistent with PA. Hence, we presumed that her hypercalcemia was caused by PA. Establishing a definitive diagnosis of PC by frozen sections intraoperatively is difficult. Histopathologic findings of atypical cells, high mitotic rate, and cellular invasions can suggest the diagnosis, though they are often negative. Even postoperatively, pathologists often disagree on cytologic interpretation. However, differentiating PA and PC is important since earlier and more aggressive treatment is needed to reduce the morbidity and mortality in case of malignancy.


2014 ◽  
Vol 10 (4) ◽  
pp. 91-94
Author(s):  
A Bhatnagar ◽  
M Deshpande

Servelle Martorelle Syndrome is a congenital vascular malformation associated with soft tissue hypertrophy and bony hypoplasia. This rarely involves whole of an extremity, with involvement of part of limbs reported in literature. We present a case of a twelve year boy who presented to the Department of Plastic Surgery SGPGIMS in April 2011 ,with history of circumferential soft tissue hypertrophy involving whole of left upper limb, scapular region and axilla since birth. The entire left upper limb length was lesser than the right upper limb. Hence this is a very rare case of Servelle Martorelle Syndrome having extensive limb involvement at a very young age. Highlighted is the role of conservative treatment and close follow-up to understand the natural history of the diseases, with prompt treatment of complications. DOI: http://dx.doi.org/10.3126/kumj.v10i4.11011 Kathmandu Univ Med J 2012;10(4):91-94


2011 ◽  
Vol 2011 ◽  
pp. 1-3 ◽  
Author(s):  
Antonio Granata ◽  
Antonio Basile ◽  
Giuseppe Alessandro Bruno ◽  
Alberto Saita ◽  
Mario Falsaperla ◽  
...  

Introduction. Hydatid disease is a cyclozoonotic parasitic infestation caused by the cestodeEchinococcus granulosus. The cysts mainly arise in the liver (50 to 70%) or lung (20 to 30%), but any other organ can be involved, in abdominal and pelvic locations, as well as in other less common sites, which may make both diagnosis and treatment more complex. Isolated renal involvement is extremely rare.Case Presentation. We report a rare case of isolated renal hydatid disease in a 71-year-old man with a history of vague abdominal pain, anemia, fever, and microhematuria. Ultrasonographic examination revealed a complex cyst in the right kidney, including multiple smaller cysts with internal echoes. A magnetic resonance scan of the abdomen confirmed the findings, and hydatid cyst disease was diagnosed. Right nephrectomy was performed, and microscopic examination confirmed the diagnosis of hydatid cyst. Albendazole, 10 mg/kg per day, was given for 4 weeks (2 weeks preoperatively and 2 weeks postoperatively).Conclusion. Isolated primary hydatidosis of the kidney should always be considered in the differential diagnosis of any cystic renal mass, even in the absence of accompanying involvement of liver or other visceral organs.


2020 ◽  
Vol 18 ◽  
pp. 205873922092685
Author(s):  
Yunna Yang ◽  
Zheng Gu ◽  
Yinglun Song

Subdural osteomas are extremely rare benign neoplasms. Here, we report the case of a 35-year-old female patient with a right frontal and parietal subdural osteoma. The patient presented with a 2-year history of intermittent headache and fatigue. Computerized tomography (CT) scan showed a high-density lesion attached to the inner surface of the right frontal and parietal skull. Magnetic resonance imaging (MRI) demonstrated T1 hyperintensity and T2 hypointensity of the lesion. Intraoperatively, the hard mass was located in subdural space and attached to the dura mater. Histopathological examination revealed lamellated bony trabeculae lined by osteoblasts and the intertrabecular marrow spaces occupied by adipose tissue. The patient underwent neurosurgical resection and recovered without complication. Surgical excision is recommended to extract the symptomatic lesions with overlying dura mater.


2019 ◽  
Vol 5 (6) ◽  
pp. e384-e387 ◽  
Author(s):  
Abraham E. Wei ◽  
Matthew R. Garrett ◽  
Ankur Gupta

Objective: To present a rare case of parathyromatosis. Methods: We present the clinical, laboratory, and imaging findings, along with a review of the literature. Results: A 33-year-old man with a history of right upper parathyroid adenoma removal 5 years prior due to hyperparathyroidism was admitted for severe hypercalcemia (15.6 mg/dL; normal, 8.5 to 10.5 mg/dL) with elevated plasma parathyroid hormone (PTH) (882 pg/mL; normal, 15 to 65 pg/mL). Ultrasound, computed tomography (CT), sestamibi, and positron emission tomography scans were unremarkable; however, a four-dimensional CT (4DCT) of the neck showed an area of increased signal enhancement and hypervascularity without discrete nodule in the posterior right thyroid region. The patient underwent parathyroid surgical exploration with right hemithyroidectomy and compartment neck dissection to remove the affected tissue. PTH levels dropped to 208 pg/mL postoperatively; calcium decreased but remained elevated at 12.7 mg/dL. Pathology revealed the presence of several small nodular foci of atypical hyperplastic parathyroid tissue in the right thyroid and soft tissue in the left central neck compartment consistent with parathyromatosis. Conclusion: This case report represents the first-time use of 4DCT to localize parathyromatosis. Parathyromatosis is a rare but problematic cause of recurrent hyperparathyroidism. Ultrasound and 4DCT may represent the best imaging modalities for identification and perioperative management to remove all affected tissue without reseeding.


2020 ◽  
Vol 2020 (8) ◽  
Author(s):  
Amjad Soltany ◽  
Ghazal Asaad ◽  
Rami Daher ◽  
Mouhannad Dayoub ◽  
Ali Khalil ◽  
...  

Abstract Ameloblastic fibrosarcoma (AFS) is a rare, aggressive malignant odontogenic tumor. AFS is seen most frequently in second and third decades of life. We are reporting a case of a low grade AFS in a 21-year-old male complaining of a painless swelling in the right side of the maxilla. The patient was treated with surgical excision followed by radiotherapy, which is considered the most effective approach for most of soft tissue sarcomas. AFS has a high-reported recurrence rate (up to 37%); therefore, long-term surveillance for recurrence is crucial.


2019 ◽  
Vol 12 (1) ◽  
pp. bcr-2018-227214 ◽  
Author(s):  
Samantha Baird ◽  
Halina Mann ◽  
Cesar M Salinas-La Rosa ◽  
Halil Ozdemir

A 75-year-old woman presented with an 18-month history of severe, slowly worsening dysphonia. She was a smoker and known to have multiple benign cystic thyroid lesions. She reported no associated symptoms and other medical and social history was unremarkable. Fibreoptic nasendoscopy revealed a right-sided supraglottic cyst appearing to arise from the right false vocal cord. Further bedside examination was unremarkable. She underwent microlaryngoscopy and biopsy which showed a cyst originating from the right anterior ventricle, successfully removed without rupture using cold steel. Formal histopathology revealed a 14×10×7 mm unilocular, completely excised cyst lined by oncocytic epithelium and composed of columnar cells with darkly stained nuclei and abundant granular, eosinophilic cytoplasm. Three weeks postoperatively the patient’s voice had returned to normal. To date, 11 months postoperatively, there is no evidence of recurrence, and she will continue long-term follow-up.


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